| Objective:1 To investigate the incidence of chromosomal abnomalities in patients with multiple myeloma(MM) byinterphase flurorescence in situ hybridization(I-FISH) and Single Nucleotide Polymorphism(SNP), analyse the relationships between sex, age, type, stage and other laboratorial indicators, discuss the clinical significances.2 To compare the incidence of chromosomal abnomalities in patients with multiple myeloma by I- FISH and SNP, the sensitivity of two kinds of techniques; analyse the epactal prevalence of chromosomal abnomalities by SNP.Methods:Bone marrow samples of 40 cases of initial diagnosed multiple myeloma patients were collected from 2013-5-31 to 2014-12-31. Myeloma cells were gathered by magnetic activated cell sorting, 6 specific probes(TP53, IGH/MAF, IGH/FGFR3, IGH/CCND1, D13S319, 1q21) were used to investigate the incidence of chromosomal abnomalities in patients with multiple myeloma by I-FISH. At the same time, the bone marrow samples of 37 patients with multiple myeloma were detected by SNP.Results: 1 The results of I- FISH 1.1 The incidence of chromosomal abnomalities:Among the 40 cases of multiple myeloma patients, there were 35 cases of chromosome abnormalities emerged, the overall detection rate of chromosomal abnormalities was 87.5%(35/40). The deletion of chromosome 17 was detected by using TP53, positive rate was 15%(6/40). The abnormality of chromosome 14q32 was detected by using IGH, positive rate was 67.5%(27/40),in the abnormality, IGH/MAF2.5%(1/40), IGH/FGFR310%(4/40), CCND132.5%(13/40). The deletion of chromosome 13 was detected by using D13S319, positive rate was 40%(16/40). The amplification of chromosome 1 was detected by using 1q21, positive rate was 45%(18/40). 1.2 The relationship between the chromosomal abnormalities:The deletion of TP53 was positive correlation to the rearrangment of IGH(r=0.324, P<0.05) and was positive correlation to the deletion of D13S319(r=0.372, P<0.05). 1.3 The relationship between the chromosomal abnormalities and the general clinical indicators in patients with multiple myeloma:The abnormity of IGH was positive correlation to sex(r=0.339, P<0.05);IGH/FGFR3 was positive correlation to the albumin(r=0.369,P<0.05),and was negative correlation to the calcium(r=-0.385,P<0.05).The amplification of 1q21 was positive correlation to age(r=-0.402,P<0.05). The deletion of D13S319 was positive correlation to albumin(r=0.289,P<0.05). Other chromsomal abnomalities were unrelated to the clinical indicators in patients with multiple myeloma. 2 The results of SNP 2.1 The incidence of chromosomal abnomalities:Among the 37 cases of multiple myeloma patients, there were 32 cases of chromosomal abnormalities emerged, the overall detection rate of chromosomal abnormalities was 86.5%(32/37). The chromosomal abnormalities of types including the deletion or amplification of the whole or part of chromosome by SNP.The most common of the deletins were 1p,8p,13 q,14q,22 q,the most common of the amplifications were 1q,2p,5,7,9,11 q,15q,19,19 p. 2.2 The comparison of two kinds of detection technology:Among the 37 cases of multiple myeloma patients, the positive rates of Gain( 1q) were 45.9%(17/37) and 48.6%(18/37) by I-FISH and SNP,there was no statistically significant difference between the two detection technology(P>0.05);the positive rates of Loss(13q) were 40.5%(15/37)and 45.9%( 17/37)by I-FISH and SNP,there was no statistically significant difference between the two detection technology(P>0.05); the positive rates of anomaly(14) were 67.6%(25/37) and 37.8%(14/37)by I-FISH and SNP,there was statistically significant difference between the two detection technology(P>0.05);the positive rate of Loss(17q) was 16.2%(6/37).Among the 37 cases of multiple myeloma patients,the average of the chromosomal abnormalities about 2 by I-FISH,the average of the chromosomal abnormalities about 7 by SNP,the more chromosomal abnormalities can be detected by SNP.When the result of I-FISH was normal, 60% extra chromosomal aberration of the patients can be detected by the SNP; when the result of I-FISH was abnormal, 81% extra chromosomal abnormalities of the patients can be detected by the SNP.Conclusions:1 The most common in patients with multiple myeloma was the abnormality of chromosome 14q32, the second was the amplification of chromosome 1, the third was the deletion of chromosome 13 by I-FISH.2 The relationship between the chromosomal abnormalities: the deletion of TP53 was positive correlation to the rearrangment of IGH(r=0.324,P<0.05) and the deletion of D13S319(r=0.372,P<0.05).3 The relationship between the chromosomal abnormalities and the general clinical indicators in patients with multiple myeloma: The abnormity of IGH was positive correlation to sex(r=0.339,P<0.05); IGH/FGFR3 was positive correlation to the albumin(r=0.369,P < 0.05) and was negative correlation to the calcium(r=-0.385,P<0.05); the amplification of 1q21 was positive correlation to age(r=-0.402,P<0.05); the deletion of D13S319 was positive correlation to albumin(r=0.289, P < 0.05). Other chromsomal abnomalities were unrelated to the clinical indicators in patients with multiple myeloma.4 The detection rate of chromosomal abnormalities was 87.5%(FISH) and 86.5%(SNP). When the result of FISH was normal, 60% extra chromosomal aberration of the patients can be detected by the SNP; when the result of FISH was abnormal, 81% extra chromosomal abnormalities of the patients can be detected by the SNP.5 In terms of detecting chromosomal abnormalities in patients with MM,the more chromosomal abnormalities can be detected by SNP,SNP was the inportant method for genetic abnormalities with multiple myeloma. |
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